NBS Advisory Board Meeting, August 23, 2016

Today I attended the quarterly meeting of the Newborn Screening Advisory Panel of Pennsylvania as I did in April and will continue to do until Krabbe is on the mandatory screening panel (and maybe even after that, but we’ll see).

You can read about the April meeting – and some background about the purpose of the Advisory Panel – here.

You can read about the meeting with the Physician General in June here.

This meeting was uneventful compared to April and Krabbe wasn’t even on the agenda for discussion. Dr. Levine, the Physician General of Pennsylvania, was in attendance for the beginning of the meeting and her presence seems to have had an effect on the panel given the tone of the discussion. 🙂

Positives:

  • Testing for X-ALD will begin on April 1, 2017 and testing for MPS-I will begin on January 1, 2017. Both of these are lysosomal storage disorders (LSDs) just like Krabbe. There are funding issues being worked out at the moment, but the panel is hopeful that these implementation dates will remain in place.
  • Testing for Pompe has been in place for six months; they have already identified eight positive cases.
  • The panel will be submitting a “Program Revision Request” to fund these two new tests AND will include the future of NBS in the proposal as more diseases (Krabbe?!) will be added in the future.
  • The Department of Health has created a new brochure about Newborn Screening to better educate new moms and dads about what is available in Pennsylvania and how it works. It will be visible on their website in a couple of weeks.
  • The panel is hoping to merge the two panel system that currently exists in Pennsylvania, which would make ALL of the testing mandatory and not optional for each hospital (meaning that all babies would finally be screened equally and your zip code won’t determine life or death!). Currently, only seven diseases are mandated in Pennsylvania; the rest, including Krabbe, are on a “follow-up” panel and each hospital chooses which diseases from that list will be included on their screenings. Ridiculous, I know. Thankfully, they all see that it’s ridiculous, as well.

Since Krabbe wasn’t mentioned in the first half, I made a point to talk to a few specific people during lunch to find out what I wanted to know:

  • According to PerkinElmer – the lab through which all of the testing is done – Hershey Medical Center is STILL the only hospital in the entire state testing every baby for Krabbe and for the other five lysosomal storage disorders (LSDs) in Hannah’s Law (Act 148 of 2014).
  • I verified YET AGAIN that if a mother asks for her child to be screened for Krabbe in a Pennsylvania hospital (or birthing center), the hospital has to do it.
  • PerkinElmer said that only a handful of requests for Krabbe testing have come through, which shows a great need for education until the testing is mandatory.

During the “public comment” section at the end of the meeting, I was able to address the issue of hospitals telling their patients that their babies were being screened for Krabbe automatically, and the panel was genuinely alarmed that this is happening. This launched a discussion about how they can improve the communication and education because it’s a serious problem and is also opening up hospitals (and the state) to law suits.

ONLY Penn State Hershey Medical Center is automatically testing for Krabbe in Pennsylvania, BUT, if you ask your hospital then they have to screen your newborn for Krabbe. Ask to speak to the Newborn Screening Coordinator at the hospital as they should be aware of this. If not, make them aware 😉

We found out that they are going to give the new brochure about NBS to the moms after birth along with everything else they give them, and Ashley (from Rep. Cruz’s office) and I both remarked that there has to be a better time, perhaps during prenatal appointments? Neither of us remember much of anything after our babies were born. That is NOT the time to give the mom a stack of papers, with this brochure included, and expect them to read and make these important screening decisions! The men agreed after we brought it up 🙂

In regards to Krabbe specifically: I asked Dr. Vockley if the conversation he had with Dr. Kurtzberg in July had affected anything (they spoke about her research and she schooled him, basically); he stated that until something is published, nothing will change. We know that Dr. Kurtzberg has submitted data for publishing, so now we just wait. Once that data comes out, it sounds like having Krabbe moved to the Mandatory Panel could happen quickly. Maybe.

Afterward, Rep. Cruz’s staff (Ashley and Rachel) and I spoke with Dr. Vockley for quite a while regarding Krabbe and Newborn Screening, and, overall, he was FAR more positive (and respectful) this time than he was three months ago. I believe that his conversation with Dr. Kurtzberg has shown him that there is MERIT in screening for Krabbe at birth; that the transplants are successful; that it’s WORTH IT.

He mentioned again the lack of data about the success of NBS and transplants for Krabbe; so, I pointed out to him that since only FOUR states are screening, it’s no wonder that we have no data! If you aren’t screening at birth, you aren’t catching it early enough to transplant, therefore, no data. He surprisingly agreed with me. I then added that, since Pennsylvania has such a high rate of leukodystrophies, WE could be the state providing that data and making headway in research. And he agreed with me there, too!

In summary, there have been no changes, no possible implementation dates, BUT, overall the attitude toward NBS screening HAS seemingly changed, and we feel hopeful that it won’t be long before every single baby in Pennsylvania is given a chance at life because of NBS.

If you read all of this, thank you. 🙂 Please spread the word to other Pennsylvanians so that every new mom is aware of the options for Newborn Screening! No matter what state you live in, you can write letters to your legislators HERE and let them know that this is important to you!

September is Krabbe/Leukodystrophy Awareness Month AND Newborn Screening Awareness Month. Let’s do our part to educate!

 

7 thoughts on “NBS Advisory Board Meeting, August 23, 2016

  1. We just lost our step granddaughter 2 weeks ago from genetic childhood ataxia with diffuse central nervous system hypomyelination, (CACH) and her mother died about a year in half ago, hers was adult onset.

    Carra our granddaughter just turned 20 she had been a big part of our daughters, granddaughter Anna and our lives since 2003. When she was about 13 1/2 she started crawling and scooting to get around. She graduated from high school last year with honors and shortly after that she started struggling with speech.

    Her mother had been in a wheel chair since she was 32 and was 43 when she died. Infant testing is very crucial for any disease.

    I also have a nephew that was born with MS and was not diagnosed until he was almost 1 year old. He is now 34 years old. He has been in a wheel chair since he was 6. He has been tube fed since he was 11.

    Liked by 1 person

  2. I am delivering my baby at The University of Pennsylvania hospital, the department of health website seems to list lysosomal storage disorders as being screened for on the supplemental screening, but the brochure the DOH lists just says that they “may” be screened for. Do I just need to request the screening when I deliver, or do I have to order/buy a testing kit in advance?

    Like

  3. Pingback: Remembering Tori Brackbill – 1 Year Heaven Anniversary! – Hope Alive Ministry

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

w

Connecting to %s